2186[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 149337	GRCh38/hg38 17q24.2(chr17:67584224-68639875)x1	AMZ2, ARSG +62 more	Copy number loss	See cases	GPathogenic
Select item 2626986	NM_182641.4(BPTF):c.28A>C (p.Lys10Gln)	BPTF (K10Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1290490	NM_182641.4(BPTF):c.36C>G (p.Pro12=)	BPTF	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 976787	NM_182641.4(BPTF):c.52_61del (p.Glu18fs)	BPTF (E18fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GPathogenic
Select item 3134905	NM_182641.4(BPTF):c.64C>A (p.Pro22Thr)	BPTF (P22T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3043804	NM_182641.4(BPTF):c.69C>T (p.Ala23=)	BPTF	Single nucleotide variant (synonymous variant)	BPTF-related disorder	GLikely benign
Select item 1971972	NM_182641.4(BPTF):c.78_86dup (p.Pro31_Thr32insProProPro)	BPTF	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 3050421	NM_182641.4(BPTF):c.77C>T (p.Pro26Leu)	BPTF (P26L)	Single nucleotide variant (missense variant)	BPTF-related disorder	GUncertain significance
Select item 2868341	NM_182641.4(BPTF):c.78A>G (p.Pro26=)	BPTF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1971703	NM_182641.4(BPTF):c.81GCC[6] (p.Pro31_Thr32insProPro)	BPTF	Microsatellite (inframe_insertion)	not provided	GConflicting classifications of pathogenicity
Select item 3134912	NM_182641.4(BPTF):c.92C>T (p.Pro31Leu)	BPTF (P31L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2003677	NM_182641.4(BPTF):c.106A>G (p.Ile36Val)	BPTF (I36V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881661	NM_182641.4(BPTF):c.109G>C (p.Gly37Arg)	BPTF (G37R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2648121	NM_182641.4(BPTF):c.132_143del (p.Ser46_Gly49del)	BPTF	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2043706	NM_182641.4(BPTF):c.132C>G (p.Arg44=)	BPTF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1971132	NM_182641.4(BPTF):c.135C>T (p.Gly45=)	BPTF	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1977352	NM_182641.4(BPTF):c.145G>A (p.Gly49Ser)	BPTF (G49S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2546058	NM_182641.4(BPTF):c.146G>C (p.Gly49Ala)	BPTF (G49A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1976177	NM_182641.4(BPTF):c.183G>A (p.Lys61=)	BPTF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1800641	NM_182641.4(BPTF):c.200C>T (p.Pro67Leu)	BPTF (P67L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693493	NM_182641.4(BPTF):c.209dup (p.Ser71fs)	BPTF (S71fs)	Duplication (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 3134888	NM_182641.4(BPTF):c.203G>C (p.Arg68Thr)	BPTF (R68T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1973293	NM_182641.4(BPTF):c.205G>C (p.Gly69Arg)	BPTF (G69R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2634841	NM_182641.4(BPTF):c.206G>A (p.Gly69Glu)	BPTF (G69E)	Single nucleotide variant (missense variant)	BPTF-related disorder	GUncertain significance
Select item 2439545	NM_182641.4(BPTF):c.206G>C (p.Gly69Ala)	BPTF (G69A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2399558	NM_182641.4(BPTF):c.208G>T (p.Gly70Cys)	BPTF (G70C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2648122	NM_182641.4(BPTF):c.211A>C (p.Ser71Arg)	BPTF (S71R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1974389	NM_182641.4(BPTF):c.229CCG[8] (p.Pro82_Ala83insProPro)	BPTF	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 1972001	NM_182641.4(BPTF):c.229CCG[7] (p.Pro82_Ala83insPro)	BPTF	Microsatellite (inframe_insertion)	not provided +1 more	GLikely benign
Select item 1971716	NM_182641.4(BPTF):c.229CCG[3] (p.Pro80_Pro82del)	BPTF	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1971200	NM_182641.4(BPTF):c.229CCG[4] (p.Pro81_Pro82del)	BPTF	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 1970930	NM_182641.4(BPTF):c.229CCG[5] (p.Pro82del)	BPTF (P82del)	Microsatellite (inframe_deletion)	not provided	GBenign
Select item 2500503	NM_182641.4(BPTF):c.242_243insCCCGCC (p.Pro82_Ala83insProPro)	BPTF	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 2870584	NM_182641.4(BPTF):c.247G>C (p.Ala83Pro)	BPTF (A83P)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2229892	NM_182641.4(BPTF):c.247_248insGCCCCCCCCCCCCCC (p.Ala83delinsGlyProProProProPro)	BPTF	Insertion (inframe_indel)	Inborn genetic diseases	GUncertain significance
Select item 817433	NM_182641.4(BPTF):c.255dup (p.Ser86fs)	BPTF (S86fs)	Duplication (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2630382	NM_182641.4(BPTF):c.248C>G (p.Ala83Gly)	BPTF (A83G)	Single nucleotide variant (missense variant)	BPTF-related disorder	GUncertain significance
Select item 828184	NM_182641.4(BPTF):c.255del (p.Ser86fs)	BPTF (S86fs)	Deletion (frameshift variant)	Inborn genetic diseases +2 more	GPathogenic
Select item 2333796	NM_182641.4(BPTF):c.251C>T (p.Pro84Leu)	BPTF (P84L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2062825	NM_182641.4(BPTF):c.257G>T (p.Ser86Ile)	BPTF (S86I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1972442	NM_182641.4(BPTF):c.262A>G (p.Ser88Gly)	BPTF (S88G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3252820	NM_182641.4(BPTF):c.282dup (p.Arg95fs)	BPTF (R95fs)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 3134889	NM_182641.4(BPTF):c.278G>C (p.Gly93Ala)	BPTF (G93A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1675688	NM_182641.4(BPTF):c.287G>C (p.Gly96Ala)	BPTF (G96A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GLikely benign
Select item 3257239	NM_182641.4(BPTF):c.288A>G (p.Gly96=)	BPTF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2824588	NM_182641.4(BPTF):c.289G>A (p.Gly97Ser)	BPTF (G97S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1975448	NM_182641.4(BPTF):c.301_321del (p.Arg101_Gly107del)	BPTF	Deletion (inframe_deletion)	not provided	GLikely benign
Select item 1879381	NM_182641.4(BPTF):c.291C>G (p.Gly97=)	BPTF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2301017	NM_182641.4(BPTF):c.300_314del (p.Arg101_Gly105del)	BPTF	Deletion (inframe_deletion)	Inborn genetic diseases	GUncertain significance
Select item 1973381	NM_182641.4(BPTF):c.301_327del (p.Arg101_Gly109del)	BPTF	Deletion (inframe_deletion)	not provided	GConflicting classifications of pathogenicity
Select item 3261412	NM_182641.4(BPTF):c.296G>A (p.Gly99Asp)	BPTF (G99D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3026410	NM_182641.4(BPTF):c.297C>G (p.Gly99=)	BPTF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2130712	NM_182641.4(BPTF):c.298G>A (p.Gly100Ser)	BPTF (G100S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3067531	NM_182641.4(BPTF):c.321C>G (p.Gly107=)	BPTF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2553277	NM_182641.4(BPTF):c.334G>T (p.Ala112Ser)	BPTF (A112S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1972051	NM_182641.4(BPTF):c.335C>T (p.Ala112Val)	BPTF (A112V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3256968	NM_182641.4(BPTF):c.342C>T (p.Thr114=)	BPTF	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2126369	NM_182641.4(BPTF):c.342_356del (p.Thr115_Arg119del)	BPTF	Deletion (inframe_deletion)	not specified +1 more	GUncertain significance
Select item 2648123	NM_182641.4(BPTF):c.343A>C (p.Thr115Pro)	BPTF (T115P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2104892	NM_182641.4(BPTF):c.343A>T (p.Thr115Ser)	BPTF (T115S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3261402	NM_182641.4(BPTF):c.350C>T (p.Ala117Val)	BPTF (A117V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2006465	NM_182641.4(BPTF):c.352C>T (p.Arg118Trp)	BPTF (R118W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2580409	NM_182641.4(BPTF):c.353G>A (p.Arg118Gln)	BPTF (R118Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1970928	NM_182641.4(BPTF):c.396GGA[1] (p.Glu136_Glu138del)	BPTF, LOC130061496	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2709186	NM_182641.4(BPTF):c.399G>A (p.Glu133=)	BPTF, LOC130061496	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1710657	NM_182641.4(BPTF):c.417_440del (p.Asp139_Glu146del)	BPTF, LOC130061496	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1971233	NM_182641.4(BPTF):c.429GGA[8] (p.Glu148_Asp149insGluGlu)	BPTF, LOC130061496	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 2855584	NM_182641.4(BPTF):c.429GGA[5] (p.Glu148del)	BPTF, LOC130061496 (E148del)	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 1973253	NM_182641.4(BPTF):c.429GGA[4] (p.Glu147_Glu148del)	BPTF, LOC130061496	Microsatellite (inframe_deletion)	not provided	GLikely benign
Select item 2648124	NM_182641.4(BPTF):c.450C>T (p.Gly150=)	BPTF, LOC130061496	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1971447	NM_182641.4(BPTF):c.451G>A (p.Asp151Asn)	BPTF, LOC130061496 (D151N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1972455	NM_182641.4(BPTF):c.455C>G (p.Ala152Gly)	BPTF, LOC130061496 (A152G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3032982	NM_182641.4(BPTF):c.456C>T (p.Ala152=)	BPTF, LOC130061496	Single nucleotide variant (synonymous variant)	BPTF-related disorder	GLikely benign
Select item 2648125	NM_182641.4(BPTF):c.468G>C (p.Gln156His)	BPTF, LOC130061496 (Q156H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1028760	NM_182641.4(BPTF):c.469G>A (p.Asp157Asn)	BPTF, LOC130061496 (D157N)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +1 more	GUncertain significance
Select item 3134897	NM_182641.4(BPTF):c.475G>A (p.Glu159Lys)	BPTF, LOC130061496 (E159K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1970967	NM_182641.4(BPTF):c.480C>G (p.Asp160Glu)	BPTF, LOC130061496 (D160E)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1971921	NM_182641.4(BPTF):c.486GGA[1] (p.Glu163del)	BPTF, LOC130061496 (E163del)	Microsatellite (inframe_deletion)	not provided	GBenign/Likely benign
Select item 2662798	NM_182641.4(BPTF):c.490G>A (p.Asp164Asn)	BPTF, LOC130061496 (D164N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3261408	NM_182641.4(BPTF):c.497T>C (p.Met166Thr)	LOC130061496, BPTF (M166T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2439547	NM_182641.4(BPTF):c.508G>A (p.Asp170Asn)	BPTF, LOC130061496 (D170N)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies	GUncertain significance
Select item 2241792	NM_182641.4(BPTF):c.512A>G (p.Asp171Gly)	BPTF, LOC130061496 (D171G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1971346	NM_182641.4(BPTF):c.542ACG[6] (p.Asp185_Ala186insAsp)	BPTF, LOC130061496	Microsatellite (inframe_insertion)	not provided	GUncertain significance
Select item 931596	NM_182641.4(BPTF):c.542ACG[7] (p.Asp184_Asp185dup)	BPTF, LOC130061496	Microsatellite (inframe_insertion)	Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies +1 more	GUncertain significance
Select item 1806224	NM_182641.4(BPTF):c.542ACG[4] (p.Asp185del)	BPTF, LOC130061496 (D185del)	Microsatellite (inframe_deletion)	not provided +1 more	GBenign/Likely benign
Select item 1696619	NM_182641.4(BPTF):c.543C>G (p.Asp181Glu)	BPTF, LOC130061496 (D181E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2783197	NM_182641.4(BPTF):c.555C>T (p.Asp185=)	BPTF, LOC130061496	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1977301	NM_182641.4(BPTF):c.556G>A (p.Ala186Thr)	BPTF, LOC130061496 (A186T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1315408	NM_182641.4(BPTF):c.565T>A (p.Cys189Ser)	BPTF, LOC130061496 (C189S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1970951	NM_182641.4(BPTF):c.570G>A (p.Thr190=)	BPTF, LOC130061496	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1686605	NM_182641.4(BPTF):c.581T>G (p.Phe194Cys)	BPTF, LOC130061496 (F194C)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 2662991	NM_182641.4(BPTF):c.592A>G (p.Ser198Gly)	BPTF, LOC130061496 (S198G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1971726	NM_182641.4(BPTF):c.604A>G (p.Ser202Gly)	BPTF, LOC130061496 (S202G)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2122109	NM_182641.4(BPTF):c.608C>T (p.Thr203Ile)	BPTF, LOC130061496 (T203I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2758645	NM_182641.4(BPTF):c.613+4C>T	BPTF, LOC130061496	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 59609	GRCh38/hg38 17q24.2-24.3(chr17:67833866-70085854)x1	ABCA10, ABCA5 +85 more	Copy number loss	See cases	GPathogenic
Select item 1311935	NM_182641.4(BPTF):c.635A>G (p.His212Arg)	BPTF (H212R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2094160	NM_182641.4(BPTF):c.638G>A (p.Arg213Gln)	BPTF (R213Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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